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rs199422226

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs199422226(C;G)
Make rs199422226(G;G)
ReferenceGRCh38 38.1/141
Chromosome2
Position206146949
GeneNDUFS1
is asnp
is mentioned by
dbSNPrs199422226
ebirs199422226
HLIrs199422226
Exacrs199422226
Varsomers199422226
Maprs199422226
PheGenIrs199422226
hapmaprs199422226
1000 genomesrs199422226
hgdprs199422226
ensemblrs199422226
gopubmedrs199422226
geneviewrs199422226
scholarrs199422226
googlers199422226
pharmgkbrs199422226
gwascentralrs199422226
openSNPrs199422226
23andMers199422226
23andMe allrs199422226
SNP Nexus

SNPshotrs199422226
SNPdbers199422226
MSV3drs199422226
GWAS Ctlgrs199422226
Max Magnitude0
ClinVar
Risk rs199422226(G,T;G,T)
Alt rs199422226(G,T;G,T)
Reference rs199422226(C;C)
Significance Pathogenic
Disease Mitochondrial complex I deficiency
Variation info
Gene NDUFS1
CLNDBN Mitochondrial complex I deficiency
Reversed 1
HGVS NC_000002.11:g.207011673G>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000015301.25,